白化-耳聋综合征(ADFN)位点在Xq26染色体上的表达定位。

A N Jacob, G Kandpal, N Gill, R P Kandpal
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引用次数: 1

摘要

我们采用直接cDNA选择方法分离了人类染色体间隔Xq26中包含x染色体连锁白化病耳聋综合征(ADFN)基因的转录序列。ADFN先前被定位在Xq26染色体上的一个8 centi Morgan区域。我们构建了6个针对6个YACs的cDNA文库,它们分别位于ADFN位点远端边界1.5 mb的范围内。YAC特异性文库的特征是存在独特的cdna。我们从选定的cDNA文库中鉴定出15个转录序列。这些cdna与三个具有良好特征的序列相匹配,这些序列对应于类固醇5- α还原酶、核糖体蛋白L28和一个已被证明在人脑皮层中表达的短转录本。7个cdna与表达的序列标签或其他功能未知的序列相匹配,5个cdna与公共数据库中的序列没有同源性。这些序列中的每一个被表示为3-10个克隆,在被测序的集合中。对这些转录序列的进一步表征可能表明ADFN的潜在候选基因。我们讨论了cDNA选择方法在组装转录图谱和鉴定遗传性耳聋潜在候选基因中的应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26.

We have employed a direct cDNA selection methodology to isolate transcribed sequences encoded in the human chromosomal interval Xq26 that contains the gene for X-chromosome linked albinism deafness syndrome (ADFN). ADFN had been previously mapped to an 8 centi Morgan region on chromosome Xq26. We have constructed six cDNA libraries specific to six YACs mapping to a 1.5 mb span at the distal boundary of the ADFN locus. The YAC specific libraries were characterized for the presence of unique cDNAs. We have identified 15 transcribed sequences from the selected cDNA libraries. These cDNAs matched to three well characterized sequences corresponding to steroid 5-alpha reductase, ribosomal protein L28, and a short transcript that has been shown to be expressed in human brain cortex. Seven of the cDNAs matched to expressed sequence tags or other sequences of unknown function, and five cDNAs shared no homology with sequences in the public data bases. Each one of these sequences was represented as 3-10 clones in the set that was subjected to sequencing. Further characterization of these transcribed sequences may indicate potential candidates responsible for ADFN. We have discussed the utility of cDNA selection methodology in assembling transcript maps and identifying potential candidates for genetic deafness.

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